Medical Research Section 4
-
Bile acids as modulators of gut microbiota composition and function
-
Aneurysmal Disease / Connective Tissue
-
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
Bile acids as modulators of gut microbiota composition and function
Anaïs B. Larab (2023)
ABSTRACT
Changes in the composition of gut-associated microbial communities are associated with many human illnesses, but the factors driving dysbiosis remain incompletely understood. One factor governing the microbiota composition in the gut is bile. Bile acids shape the microbiota composition through their antimicrobial activity and by activating host signaling pathways that maintain gut homeostasis. Although bile acids are host-derived, their functions are integrally linked to bacterial metabolism, which shapes the composition of the intestinal bile acid pool. Conditions that change the size or composition of the bile acid pool can trigger alterations in the microbiota composition that exacerbate inflammation or favor infection with opportunistic pathogens. Therefore, manipulating the composition or size of the bile acid pool might be a promising strategy to remediate dysbiosis.
Note: This article was added to support the Thesis that Alpha1 MZ patients have a reduced bile acid availability, which would explain their light color stools, and small intestinal issues. (including mineral and vitamin deficiencies)
(Aneurysmal Disease / Connective Tissue)
The Expanding Scope of Alpha 1 Antitrypsin
Deficiency
Friedrich Kueppers, MD 2024
Extracts out of this paper;
In patients with AATD, the lack of Neutrophil Elastase inhibition and overactivity of proteases can degrade elastin and connective tissues, leading to a loss of elasticity in vessel walls, increased stiffness, and reduced distensibility. This can result in aortic wall weakening and aortic distention There is an abundance of evidence reporting the protective role of AAT in preserving arterial wall integrity.
Data show there is a pathological association between AAT and the development of aortic distention, with age as a driving factor. AAT is genetically highly polymorphic with multiple alleles influencing serum levels, and its functionality. A pathological association is evident between different AAT alleles, with respect to vascular disease and the coexistence of emphysema, as well as aortic and cerebral aneurysms. It is, therefore, important to consider the expanding scope of AATD, and patients with this condition should be monitored for cardiovascular implications.”
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
Colleen A. Morris et all. 2010
Abstract;
lastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We examined a cohort of 205 individuals with WS for mutations in SERPINA1, the gene that encodes alpha-1-antitrypsin (AAT), the inhibitor of elastase.
Individuals with classic WS deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. However, carrier status for AAT deficiency was not correlated with presence of inguinal hernia or with presence or severity of SVAS. These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS.